Genetic influences in the epilepsies. Review of the literature with practical implications.
We review hereditary influences in the epilepsies from the perspective of medical genetics. The recurrence risk for epilepsy in close relatives may vary from 2% to 5% up to 50% depending on the etiology of the seizure disorder in the proband. We emphasize the identification of specific disorders with single-gene inheritance that will lead to useful conclusions regarding treatment, prognosis, and family counseling. Also discussed are chromosomal aberrations, polygenic inheritance, gene-environment interactions, animal models of epilepsy, and the pharmacogenetics of anticonvulsants.
D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004195:Disease Models, Animal; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D003294:Seizures, Febrile / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics; D014960:X Chromosome